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MC1R (melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor))

Identity

Other namesCMM5
MGC14337
MSH-R
SHEP2
HGNC (Hugo) MC1R
Location 16q24.3
Location_base_pair Starts at 88511788 and ends at 88514886 bp from pter ( according to hg18-March_2006)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)MC1R   6929
Entrez_Gene (NCBI)MC1R  4157  melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Cards
GeneCards (Weizmann)MC1R
Ensembl (Hinxton)ENSG00000197971 [Gene_View]  MC1R [Vega]
AceView (NCBI)MC1R
Genatlas (Paris)MC1R
euGene (Indiana)4157
SOURCE (Stanford)NM_002386
Gene Expression (Array Express) ENSG00000197971
Genomic and cartography
GoldenPath (UCSC)MC1R  -  16q24.3   chr16:88511788-88514886 +  16q24.3   [Description]    (hg18-March_2006)
EnsemblMC1R - 16q24.3 [CytoView]
Mapping of homologs : NCBIMC1R [Mapview]
OMIM155555   155600   203200   226300   266300   613098   613099   
Gene and transcription
Gene : Genbank (Entrez)AK024232 AK054666 AK225902 BC007856 BC080622
Reference sequence (RefSeq transcript) :SRSNM_002386
Reference transcript : EntrezNM_002386
RefSeq genomic : SRSAC_000059 AC_000148 NC_000016 NG_012026 NT_010542 NW_001838336 NW_926561
RefSeq genomic : EntrezAC_000059 AC_000148 NC_000016 NG_012026 NT_010542 NW_001838336 NW_926561
Consensus coding sequences : CCDS NCBIMC1R
Cluster EST : UnigeneHs.513829 [ SRS ] Hs.513829 [ NCBI ]
Alternative Splicing : Fast-db (Paris)12706
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ01726 (SRS) Q01726 (Expasy) Q01726 (Uniprot)
With graphics : InterProQ01726
Splice isoforms : VarSplice FASTAQ01726(VarSplice FASTA)
Domaine pattern : Prosite (SRS)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domain pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (SRS)7TM_GPCR_Rhodpsn    GPCR_Rhodpsn_supfam    Melcrt_ACTH_rcpt    MSH_rcpt   
Domains : Interpro (EBI)7TM_GPCR_Rhodpsn    GPCR_Rhodpsn_supfam    Melcrt_ACTH_rcpt    MSH_rcpt   
Related proteins : CluSTrQ01726
Domain families : Pfam SRS7tm_1 (PF00001)   
Domain families : Pfam Sanger7tm_1 (PF00001)   
Domain families : Pfam NCBIpfam00001   
Blocks (Seattle)Q01726
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01118
Protein Interaction databases
DIP (DOE-UCLA)Q01726
IntAct (EBI)Q01726
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMC1R
SNP : GeneSNP UtahMC1R
SNP : HGBaseMC1R
Genetic variants : HAPMAPMC1R
Mutations and Diseases : HGMDMC1R
Hereditary diseases : OMIM155555    155600    203200    226300    266300    613098    613099   
Hereditary diseases : GENETests155555    155600    203200    226300    266300    613098    613099   
Diseases : Genetic AssociationMC1R
General knowledge
Homologs : HomoloGeneMC1R
Homology/Alignments : Family Browser UCSCMC1R
Phylogenetic Trees/Animal Genes : TreeFamMC1R
Chemical/Protein Interactions : CTD4157
Keywords Ontology : AmiGOreceptor activity  melanocyte stimulating hormone receptor activity  intracellular  plasma membrane  integral to plasma membrane  mitosis  signal transduction  G-protein signaling, coupled to cyclic nucleotide second messenger  protein kinase cascade  multicellular organismal development  UV protection  positive regulation of gene-specific transcription from RNA polymerase II promoter  positive regulation of protein kinase A signaling cascade  microtubule cytoskeleton  neuron differentiation  axon  positive regulation of cAMP biosynthetic process  negative regulation of tumor necrosis factor production  melanosome  pigmentation  positive regulation of protein kinase B signaling cascade  UV-damage excision repair  positive regulation of protein kinase C signaling cascade  
Keywords Ontology : EGO-EBIreceptor activity  melanocyte stimulating hormone receptor activity  intracellular  plasma membrane  integral to plasma membrane  mitosis  signal transduction  G-protein signaling, coupled to cyclic nucleotide second messenger  protein kinase cascade  multicellular organismal development  UV protection  positive regulation of gene-specific transcription from RNA polymerase II promoter  positive regulation of protein kinase A signaling cascade  microtubule cytoskeleton  neuron differentiation  axon  positive regulation of cAMP biosynthetic process  negative regulation of tumor necrosis factor production  melanosome  pigmentation  positive regulation of protein kinase B signaling cascade  UV-damage excision repair  positive regulation of protein kinase C signaling cascade  
Pathways : BIOCARTA
Pathways : KEGGNeuroactive ligand-receptor interaction
Other databases
Probes
Probes : ImagenesMC1R Related clones (RZPD - Berlin)
Literature
PubMed172 Pubmed reference(s) in Entrez
PubGeneMC1R
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated03-2009Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 27 10:30:43 CET 2010
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